Wang C, Tang J, Tong K, et al. BMC Med Genomics. 2021;14(1):292. Published 2021 Dec 11. doi:10.1186/s12920-021-01131-6. Open Access: Learn more
Tags: Clinical Experience / Clinical Utility, 2021, China, RAAs, CNVs
- Study of 39,002 women who had NIPT. 473 pregnancies (1.213%) were screen positive for clinically significant fetal chromosome abnormalities by NIPT.
- PPVs for T21, T18, T13, SCA, RATs, and microdeletion/microduplication syndrome cases were 88.89%, 53.33%, 20.00%, 40.22%, 4.88%, and 49.02%, respectively.
- PPVs of CNVs of <5 Mb, 5–10 Mb, and >10 Mb were 54.55%, 38.46%, and 40.00%, respectively.